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All papers authored by Ana Topf

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2020 Ana Töpf

ORCID

, Katherine Johnson, Lauren Phillips, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Jennifer Duff, Magdalena Mroczek

ORCID

, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Willem de Ridder and 84 other authors

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

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Magdalena Mroczek

ORCID

, Hacer Durmus, Sunita Bijarnia-Mahay

ORCID

, Ana Töpf

ORCID

ORCID

, Samantha Bryen

ORCID

, Jennifer Duff, Eleina England, Sandra T. Cooper

ORCID

, Daniel G. MacArthur, Volker Straub

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

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2019 Carola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, Klaus Böck, Kittichate Visuttijai, Georg Caravias, Ana Töpf

ORCID

, Volker Straub, Jonathan Baets

ORCID

, Anders Oldfors

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency

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